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Protein variations associated with Lesch-Nyhan syndrome.

Data up to Jan 2025

Published1981
Citations40
References29

Total Citations Per Year

Abstract

References (29)

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1981 • 379 citations

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Advances in Human Genetics 8

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Purification of IMP:Pyrophosphate Phosphoribosyltransferases, Catalytically Incompetent Enzymes in Lesch-Nyhan Disease

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1979 • 88 citations

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Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome

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1977 • 44 citations

Electrophoretic properties of hypoxanthine-guanine phosphoribosyl transferase in erythrocytes of subjects with Lesch-Nyhan syndrome

1972 • 42 citations

Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients.

1975 • 42 citations

Inosinic acid dehydrogenase activity in the Lesch-Nyhan syndrome

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Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein.

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Hypoxanthine Phosphoribosyltransferase: Two-Dimensional Gels from Normal and Lesch-Nyhan Hemolyzates

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Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts

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Immunochemical studies of AMP:pyrophosphate phosphoribosyltransferase from normal and Lesch—Nyhan subjects

1973 • 21 citations

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Pathological and immunological observations in a case of Lesch-Nyhan-syndrome

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1976 • 12 citations

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Protein variations associated with Lesch-Nyhan syndrome. (1981) – Proceedings of the National Academy of Sciences | Metascience Observatory Explorer